Create issue ticket

41 Possible Causes for Hyporeflexia, Percussion Myotonia

  • Schwartz-Jampel Syndrome

    Further investigation showed some typical facial features of the syndrome, percussion myotonia and abnormal EMG pattern characterized by continuous muscle activity at rest[ncbi.nlm.nih.gov] He had proximal muscle hypertrophy, distal muscle wasting and generalized hyporeflexia. Bone X-ray revealed pseudofracture of humerus.[advbiores.net] He had diffuse muscular hypertrophy and stiffness with eyelid myotonia, tongue myotonia, percussion myotonia at thenar eminence [Figure 2] and forearm muscles.[amhsjournal.org]

  • Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] […] typically elicited by percussion of the thenar eminence with a tendon hammer—‘percussion myotonia’.[doi.org] Handgrip myotonia and strength may improve with repeated contractions—‘warm up phenomenon’. 28 The warm up phenomenon can also improve speech production. 29 Myotonia can be[doi.org]

  • Paramyotonia Congenita

    They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms.[ncbi.nlm.nih.gov] […] disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; fasciculation; hyporeflexia[icd10data.com] Also of diagnostic importance are the myotonic reactions inducible at room temperature, such as percussion myotonia, active myotonia and paradoxical myotonia.[ncbi.nlm.nih.gov]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    myotonia Skeletal muscle fibrosis Abnormality of the musculature Anemia Splenomegaly Cardiomyopathy Behavioral abnormality Depressivity Hepatosplenomegaly X-linked inheritance[mendelian.co] […] weakness Trophic changes related to pain Autophagic vacuoles Centrally nucleated skeletal muscle fibers Pica Peripheral neuropathy Distal muscle weakness Flexion contracture Hyporeflexia[mendelian.co] […] retinopathy Mask-like facies Neck muscle weakness Progressive ptosis Pes cavus Dyspnea Ranula Spinal canal stenosis Loss of ability to walk Abnormality of muscle fibers Percussion[mendelian.co]

  • Hypokalemic Periodic Paralysis

    myotonia MC, PMC, PAM Physical exam with some of: fifth digit clinodactyly, ocular hypertelorism, low-set ears, webbed fingers/toes, broad nasal root, small mandible, short[translational-medicine.com] […] normal limits; he had zero out of five strength in his hips, two out of five strength in his knees and shoulders, and normal strength distally with bicipital and patellar hyporeflexia[academic.oup.com] With more severe hypokalemia, flaccid paralysis and hyporeflexia may result.[flipper.diff.org]

  • Generalized Myotonia of Thomsen

    On examination he showed percussion myotonia. There was no grip myotonia or eyelid myotonia. Nerve conduction studies were normal.[jnnp.bmj.com] Hyporeflexia is also seen in a large percentage of patients. Weakness, when present, tends to be in the distal lower extremities.[neuroweb.us] Secondary outcomes: (1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) adverse events.[cochrane.org]

  • Charcot-Marie-Tooth Disease Type 2S

    The unusual clinical features of CMTD were associated with fasciculation, cramps, myokymia, impaired muscular relaxation and percussion myotonia with their electromyographic[wikigenes.org] Common clinical manifestations of CMTX1 disease, as in other forms of Charcot-Marie-Tooth (CMT) disease, are distal muscle wasting and weakness, hyporeflexia, distal sensory[pediatrics.aappublications.org] ) disease is a clinically and genetically heterogeneous hereditary motor and sensory neuropathy characterized by distal muscle wasting and weakness, sensory disturbance, hyporeflexia[pediatrics.aappublications.org]

  • Myotonic Dystrophy

    Percussion myotonia or myotonia of grasp or both is usually present if looked for.[pediatrics.aappublications.org] Other typical findings of the disease were frontal alopecia, bilateral palpebral ptosis, testicular atrophy, muscular weakness with distal predominance, generalized hyporeflexia[revespcardiol.org] The less common clinical syndromes, which include the two possible cases of myotonic dystrophy, are: (2) almost pure myotonia, symptomatic from early infancy (one case) or[pediatrics.aappublications.org]

  • Congenital Muscular Dystrophy

    Myotonia (prolonged muscle contraction) occurs spontaneously or is elicited by voluntary activity or by mild stimulation, such as tapping on a muscle (percussion myotonia)[neuropathology-web.org] Examination revealed generalised hypotonia and hyporeflexia.[ncbi.nlm.nih.gov]

  • Bilateral Leg Weakness

    Inflammation of muscles produces irritability of the muscles which is sometimes visible with gentle percussion- Marked contractions of muscles after percussion, myotonia,[pedclerk.bsd.uchicago.edu] Signs LMD dysfunction in the limbs manifests as weakness, atrophy, fasciculations and hyporeflexia. The thighs are often a site of marked fasciculation.[patient.info]

Further symptoms

Similar symptoms